Adult onset dystonia, chorea or related movement disorder
Gene: NPC2
NPC2 (NPC intracellular cholesterol transporter 2)
EnsemblGeneIds (GRCh38): ENSG00000119655
EnsemblGeneIds (GRCh37): ENSG00000119655
OMIM: 601015, Gene2Phenotype
NPC2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000119655
EnsemblGeneIds (GRCh37): ENSG00000119655
OMIM: 601015, Gene2Phenotype
NPC2 is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:41 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
Dystonia is a feature of the syndrome. PMID 11567215 suggests there is Juvenile onset of neurological symptoms in 50% of cases, and in infancy in 20% of cases, but do not clarify what constituted neurological symptoms. Severe phenotype presentig in childhood.Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Niemann-pick disease, type C2, 607625
Publications
Details
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Niemann-pick disease, type C2, 607625
- Dystonia
- OMIM
- 601015
- Clinvar variants
- Variants in NPC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cholestasis
- Undiagnosed metabolic disorders
- Niemann Pick disease type C
- Likely inborn error of metabolism
- Hyperammonaemia
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Neonatal cholestasis
- Lysosomal storage disorder
- Fetal anomalies
History Filter Activity
23 Apr 2019, Gel status: 1
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Niemann-pick disease, type C2, 607625 for gene: NPC2 Publications for gene NPC2 were changed from to 11567215
23 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NPC2.
23 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to NPC2.
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NPC2 was added gene: NPC2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: NPC2 was set to Phenotypes for gene: NPC2 were set to Dystonia